Zobrazeno 1 - 10
of 3 391
pro vyhledávání: '"ROPERS, H"'
Autor:
Cingoz, S., Bisgaard, A.M., Bache, I., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H.‐H., Maas, N., Van Buggenhout, G., Tommerup, N., Tümer, Z.
Publikováno v:
American Journal of Medical Genetics. Part A; October 2006, Vol. 140 Issue: 20 p2231-2235, 5p
Autor:
Walczak‐Sztulpa, Joanna, Wisniewska, Marzena, Latos‐Bielenska, Anna, Linné, Maja, Kelbova, Christina, Belitz, Britta, Pfeiffer, Lutz, Kalscheuer, Vera, Erdogan, Fikret, Kuss, Andreas W., Ropers, Hans‐Hilger, Ullmann, Reinhard, Tzschach, Andreas
Publikováno v:
American Journal of Medical Genetics. Part A; February 2008, Vol. 146 Issue: 3 p337-342, 6p
Autor:
Tzschach, Andreas, Chen, Wei, Erdogan, Fikret, Hoeller, Adelheid, Ropers, Hans‐Hilger, Castellan, Claudio, Ullmann, Reinhard, Schinzel, Albert
Publikováno v:
American Journal of Medical Genetics. Part A; January 2008, Vol. 146 Issue: 2 p197-203, 7p
Autor:
Tzschach, Andreas, Menzel, Corinna, Erdogan, Fikret, Schubert, Marei, Hoeltzenbein, Maria, Barbi, Gotthold, Petzenhauser, Christine, Ropers, Hans‐Hilger, Ullmann, Reinhard, Kalscheuer, Vera
Publikováno v:
American Journal of Medical Genetics. Part A; February 2007, Vol. 143 Issue: 4 p333-337, 5p
Autor:
Erdogan, Fikret, Ullmann, Reinhard, Chen, Wei, Schubert, Marei, Adolph, Sabine, Hultschig, Claus, Kalscheuer, Vera, Ropers, Hans‐Hilger, Spaich, Christiane, Tzschach, Andreas
Publikováno v:
American Journal of Medical Genetics. Part A; January 2007, Vol. 143 Issue: 2 p172-178, 7p
Autor:
Tzschach, Andreas, Krause‐Plonka, Ines, Menzel, Corinna, Knoblauch, Andreas, Toennies, Holger, Hoeltzenbein, Maria, Radke, Michael, Ropers, Hans‐Hilger, Kalscheuer, Vera
Publikováno v:
American Journal of Medical Genetics. Part A; May 2006, Vol. 140 Issue: 10 p1108-1110, 3p
Autor:
Franić, Sanja, Dolan, Conor V., Broxholme, John, Hu, Hao, Zemojtel, Tomasz, Davies, Garreth E., Nelson, Kelly A., Ehli, Erik A., Pool, René, Hottenga, Jouke-Jan, Ropers, H.-Hilger, Boomsma, Dorret I.
Publikováno v:
In Intelligence March-April 2015 49:10-22
Autor:
Ropers, H., van Karnebeek, C.
Publikováno v:
Cold Spring Harbor Molecular Case Studies
After a long and largely disappointing detour, Genome Research has reidentified Rare Diseases as a major opportunity for improving health care and a clue to understanding gene and genome function. In this Special Issue of CSH Molecular Case Studies o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::fde67df50e3d4d70a788f4ed6daea06d
https://hdl.handle.net/21.11116/0000-000A-6887-921.11116/0000-000A-6885-B
https://hdl.handle.net/21.11116/0000-000A-6887-921.11116/0000-000A-6885-B
Autor:
Jensen, L.R., Garrett, L., Hölter, S.M., Rathkolb, B., Rácz, I., Adler, T., Prehn, C., Hans, W., Rozman, J., Becker, L., Aguilar-Pimentel, J.A., Puk, O., Moreth, K., Dopatka, M., Walther, D.J., Bohlen und Halbach, V. von, Rath, M., Delatycki, M., Bert, B., Fink, H., Blümlein, K., Ralser, M., Dijck, A. van, Kooy, F., Stark, Z., Müller, S., Scherthan, H., Gecz, J., Wurst, W., Wolf, E., Zimmer, A., Klingenspor, M., Graw, J., Klopstock, T., Busch, D., Adamski, J., Fuchs, H., Gailus-Durner, V., Hrabe de Angelis, M., Bohlen und Halbach, O. von, Ropers, H.-H., Kuss, A.W.
Mutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the patholo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______610::9e7e65a723b876eb79d363ae80f014bc
https://publica.fraunhofer.de/handle/publica/258644
https://publica.fraunhofer.de/handle/publica/258644
Autor:
Ropers, H. -Hilger1 ropers@molgen.mpg.de, Hamel, Ben C. J.2
Publikováno v:
Nature Reviews Genetics. Jan2005, Vol. 6 Issue 1, p46-57. 12p. 1 Diagram, 2 Charts, 1 Graph.